近期扩增的人类Alu重复序列两个小亚家族中的分散和插入多态性

Dispersion and insertion polymorphism in two small subfamilies of recently amplified human Alu repeats.

作者信息

Batzer M A, Rubin C M, Hellmann-Blumberg U, Alegria-Hartman M, Leeflang E P, Stern J D, Bazan H A, Shaikh T H, Deininger P L, Schmid C W

机构信息

Human Genome Center L-452, Lawrence Livermore National Laboratory, Livermore, CA 94551, USA.

出版信息

J Mol Biol. 1995 Mar 31;247(3):418-27. doi: 10.1006/jmbi.1994.0150.

DOI:10.1006/jmbi.1994.0150

PMID:7714898

Abstract

Newly isolated members of two recently propagated (young) Alu subfamilies were examined for sequence diversity and insertion polymorphism in primate genomes. The smaller subfamily (termed HS-2) is comprised of approximately 5 to 25 members, while the larger (termed Sb2) includes approximately 125 to 600 members. Individual members of these Alu subfamilies share distinguishing sets of diagnostic mutations, are well-conserved relative to each other, and have expanded in the human lineage. At least one member from each subfamily is known to be polymorphic in humans. Three newly characterized HS-2 Alu family members as well as three Sb2 Alu repeats are monomorphic (fixed) in humans. The existence of a number of Alu subfamilies that have amplified in parallel within the human genome provides compelling evidence for the simultaneous activity of multiple dispersed Alu source genes.

摘要

对两个最近扩增（年轻）的Alu亚家族新分离出的成员进行了灵长类基因组中的序列多样性和插入多态性检测。较小的亚家族（称为HS-2）约由5至25个成员组成，而较大的亚家族（称为Sb2）约包含125至600个成员。这些Alu亚家族的单个成员共享独特的诊断性突变集，彼此间保守性良好，且在人类谱系中有所扩增。已知每个亚家族至少有一个成员在人类中具有多态性。三个新鉴定的HS-2 Alu家族成员以及三个Sb2 Alu重复序列在人类中是单态的（固定的）。多个Alu亚家族在人类基因组中平行扩增的存在为多个分散的Alu源基因的同时活性提供了有力证据。